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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Fukuyama muscular dystrophy (FCMD; MIM253800), one of the most common autosomal recessive disorders in Japan, was the first human disease found to result from ancestral insertion of a SINE-VNTR-Alu (SVA) retrotransposon into a causative gene(1-3). In FCMD, the SVA insertion occurs in the 3′-untransl...

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Detalles Bibliográficos
Autores principales:	Taniguchi-Ikeda, Mariko, Kobayashi, Kazuhiro, Kanagawa, Motoi, Yu, Chih-chieh, Mori, Kouhei, Oda, Tetsuya, Kuga, Atsushi, Kurahashi, Hiroki, Akman, Hasan O., DiMauro, Salvatore, Kaji, Ryuji, Yokota, Toshifumi, Takeda, Shin’ichi, Toda, Tatsushi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2011
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412178/ https://www.ncbi.nlm.nih.gov/pubmed/21979053 http://dx.doi.org/10.1038/nature10456

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